A genetic model for cloacal exstrophy, the extreme cloacal malformation.
Cloacal exstrophy (CE) or vesicointestinal fissure is an uncommon but well known anomaly that represents the extreme cloacal malformation. It is most often seen as an isolated anomaly, or as part of the OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Limb anomalies are also seen with CE. Unlike the OEIS complex, limb anomalies occur as independent malformations. Here, we present two cases of CE with limb anomalies that are consistent with the phenotype seen in Disorganization (Ds), an unusual human malformation syndrome. From reviewing the mouse model, it may be that the Ds gene is a candidate for isolated CE as well.
Robin
Nathaniel H
NH
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA. nrobin@uab.edu
Sathienkijkanchai
Achara
A
Herndon
C D Anthony
CD